Incidental Mutation 'IGL02556:Xrn2'
ID |
298526 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Xrn2
|
Ensembl Gene |
ENSMUSG00000027433 |
Gene Name |
5'-3' exoribonuclease 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL02556
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
146854916-146919920 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 146880216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028921
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028921]
|
AlphaFold |
Q9DBR1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028921
|
SMART Domains |
Protein: ENSMUSP00000028921 Gene: ENSMUSG00000027433
Domain | Start | End | E-Value | Type |
Pfam:XRN_N
|
1 |
254 |
1.5e-104 |
PFAM |
ZnF_C2HC
|
262 |
278 |
7.99e-1 |
SMART |
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
PDB:3FQD|A
|
469 |
785 |
8e-75 |
PDB |
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136136
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147057
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
G |
10: 100,446,579 (GRCm39) |
|
probably null |
Het |
Ace |
A |
G |
11: 105,863,353 (GRCm39) |
D376G |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,458,654 (GRCm39) |
T1252I |
probably damaging |
Het |
Bhmt |
T |
C |
13: 93,774,008 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
T |
C |
2: 91,425,186 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,299,065 (GRCm39) |
T37A |
probably benign |
Het |
Cnmd |
C |
T |
14: 79,899,400 (GRCm39) |
V18I |
probably benign |
Het |
Cryl1 |
C |
T |
14: 57,513,478 (GRCm39) |
V248M |
probably benign |
Het |
D830039M14Rik |
C |
T |
10: 61,311,262 (GRCm39) |
|
probably benign |
Het |
Dido1 |
T |
C |
2: 180,331,128 (GRCm39) |
T107A |
possibly damaging |
Het |
Efna5 |
C |
A |
17: 62,958,023 (GRCm39) |
V78F |
probably damaging |
Het |
Eml1 |
A |
G |
12: 108,503,625 (GRCm39) |
I741V |
probably benign |
Het |
Gfap |
A |
G |
11: 102,787,780 (GRCm39) |
L55P |
probably damaging |
Het |
Itga6 |
A |
G |
2: 71,669,027 (GRCm39) |
I606V |
probably benign |
Het |
Kif2c |
G |
T |
4: 117,019,802 (GRCm39) |
D579E |
probably damaging |
Het |
Lef1 |
T |
C |
3: 130,988,442 (GRCm39) |
|
probably null |
Het |
Lrrc1 |
T |
A |
9: 77,342,404 (GRCm39) |
I357L |
probably benign |
Het |
Lrrc37 |
A |
G |
11: 103,504,109 (GRCm39) |
S2620P |
probably benign |
Het |
Map3k20 |
T |
A |
2: 72,202,239 (GRCm39) |
F157I |
probably damaging |
Het |
Naga |
A |
T |
15: 82,214,337 (GRCm39) |
N391K |
probably damaging |
Het |
Ncaph |
T |
C |
2: 126,968,025 (GRCm39) |
|
probably benign |
Het |
Or11g2 |
C |
A |
14: 50,856,185 (GRCm39) |
Q169K |
probably benign |
Het |
Or12d13 |
T |
A |
17: 37,647,887 (GRCm39) |
M79L |
probably benign |
Het |
Or5ae1 |
T |
G |
7: 84,565,567 (GRCm39) |
Y193* |
probably null |
Het |
Or6b9 |
T |
A |
7: 106,555,598 (GRCm39) |
I182F |
possibly damaging |
Het |
Or6c2b |
T |
G |
10: 128,947,904 (GRCm39) |
Y130S |
probably damaging |
Het |
Or8g55 |
T |
A |
9: 39,784,906 (GRCm39) |
C112S |
possibly damaging |
Het |
Pappa |
C |
A |
4: 65,074,863 (GRCm39) |
D472E |
possibly damaging |
Het |
Pdxk |
G |
A |
10: 78,287,319 (GRCm39) |
L81F |
probably damaging |
Het |
Pkhd1 |
G |
T |
1: 20,380,934 (GRCm39) |
T2635K |
probably damaging |
Het |
Psmb6 |
A |
T |
11: 70,417,248 (GRCm39) |
H99L |
possibly damaging |
Het |
Ptpn6 |
C |
T |
6: 124,705,623 (GRCm39) |
G135E |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,972,844 (GRCm39) |
D251E |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,689,234 (GRCm39) |
V1955A |
possibly damaging |
Het |
Rsph4a |
T |
C |
10: 33,781,148 (GRCm39) |
|
probably benign |
Het |
Sh2d4b |
T |
C |
14: 40,542,700 (GRCm39) |
T359A |
probably benign |
Het |
Sh3bp5l |
A |
G |
11: 58,237,087 (GRCm39) |
D348G |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,797,932 (GRCm39) |
M217K |
probably damaging |
Het |
Slc30a6 |
T |
C |
17: 74,711,054 (GRCm39) |
L49P |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,956,173 (GRCm39) |
M288I |
probably benign |
Het |
Tmem127 |
C |
A |
2: 127,097,922 (GRCm39) |
|
probably null |
Het |
Tnfrsf17 |
T |
C |
16: 11,131,811 (GRCm39) |
|
probably benign |
Het |
Trak1 |
A |
T |
9: 121,277,967 (GRCm39) |
N341I |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 38,002,692 (GRCm39) |
I1453T |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,944,709 (GRCm39) |
|
probably null |
Het |
Zscan10 |
C |
T |
17: 23,827,119 (GRCm39) |
A144V |
possibly damaging |
Het |
|
Other mutations in Xrn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Xrn2
|
APN |
2 |
146,878,670 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00950:Xrn2
|
APN |
2 |
146,870,066 (GRCm39) |
nonsense |
probably null |
|
IGL01323:Xrn2
|
APN |
2 |
146,876,767 (GRCm39) |
splice site |
probably benign |
|
IGL01328:Xrn2
|
APN |
2 |
146,871,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01545:Xrn2
|
APN |
2 |
146,880,099 (GRCm39) |
missense |
probably benign |
|
IGL01729:Xrn2
|
APN |
2 |
146,878,717 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01805:Xrn2
|
APN |
2 |
146,870,063 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02326:Xrn2
|
APN |
2 |
146,889,633 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02332:Xrn2
|
APN |
2 |
146,868,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02609:Xrn2
|
APN |
2 |
146,891,945 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02941:Xrn2
|
APN |
2 |
146,868,444 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03119:Xrn2
|
APN |
2 |
146,884,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0052:Xrn2
|
UTSW |
2 |
146,882,885 (GRCm39) |
splice site |
probably benign |
|
R0114:Xrn2
|
UTSW |
2 |
146,871,699 (GRCm39) |
missense |
probably damaging |
0.98 |
R0196:Xrn2
|
UTSW |
2 |
146,889,580 (GRCm39) |
missense |
probably damaging |
0.99 |
R0799:Xrn2
|
UTSW |
2 |
146,871,818 (GRCm39) |
missense |
probably benign |
0.03 |
R0991:Xrn2
|
UTSW |
2 |
146,884,002 (GRCm39) |
missense |
probably benign |
0.40 |
R1444:Xrn2
|
UTSW |
2 |
146,903,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R1727:Xrn2
|
UTSW |
2 |
146,903,436 (GRCm39) |
missense |
probably benign |
0.00 |
R1735:Xrn2
|
UTSW |
2 |
146,903,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Xrn2
|
UTSW |
2 |
146,891,281 (GRCm39) |
nonsense |
probably null |
|
R2199:Xrn2
|
UTSW |
2 |
146,866,670 (GRCm39) |
missense |
probably damaging |
0.96 |
R2884:Xrn2
|
UTSW |
2 |
146,889,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R3730:Xrn2
|
UTSW |
2 |
146,866,729 (GRCm39) |
missense |
probably benign |
0.09 |
R3771:Xrn2
|
UTSW |
2 |
146,903,207 (GRCm39) |
missense |
probably benign |
0.12 |
R3772:Xrn2
|
UTSW |
2 |
146,903,207 (GRCm39) |
missense |
probably benign |
0.12 |
R3773:Xrn2
|
UTSW |
2 |
146,903,207 (GRCm39) |
missense |
probably benign |
0.12 |
R3816:Xrn2
|
UTSW |
2 |
146,870,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R3927:Xrn2
|
UTSW |
2 |
146,880,109 (GRCm39) |
missense |
probably benign |
|
R4173:Xrn2
|
UTSW |
2 |
146,889,612 (GRCm39) |
missense |
probably damaging |
0.96 |
R4659:Xrn2
|
UTSW |
2 |
146,903,394 (GRCm39) |
missense |
probably benign |
0.01 |
R4928:Xrn2
|
UTSW |
2 |
146,893,638 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5452:Xrn2
|
UTSW |
2 |
146,866,633 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5527:Xrn2
|
UTSW |
2 |
146,871,675 (GRCm39) |
missense |
probably benign |
0.02 |
R6297:Xrn2
|
UTSW |
2 |
146,868,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R6301:Xrn2
|
UTSW |
2 |
146,905,262 (GRCm39) |
missense |
probably benign |
0.05 |
R6316:Xrn2
|
UTSW |
2 |
146,883,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R6705:Xrn2
|
UTSW |
2 |
146,878,582 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7173:Xrn2
|
UTSW |
2 |
146,884,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R7408:Xrn2
|
UTSW |
2 |
146,884,017 (GRCm39) |
critical splice donor site |
probably null |
|
R7412:Xrn2
|
UTSW |
2 |
146,891,266 (GRCm39) |
missense |
probably damaging |
0.99 |
R7501:Xrn2
|
UTSW |
2 |
146,871,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R7856:Xrn2
|
UTSW |
2 |
146,910,393 (GRCm39) |
splice site |
probably null |
|
R8912:Xrn2
|
UTSW |
2 |
146,891,913 (GRCm39) |
missense |
probably benign |
0.04 |
R8969:Xrn2
|
UTSW |
2 |
146,871,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R9083:Xrn2
|
UTSW |
2 |
146,880,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R9179:Xrn2
|
UTSW |
2 |
146,855,081 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Xrn2
|
UTSW |
2 |
146,870,126 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Posted On |
2015-04-16 |